The ATOM-Seq sequence capture panel can accurately predict microsatellite instability status in formalin-fixed tumour samples, alongside routine gene mutation testing.

Autor: Srihar K; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Gusnanto A; Department of Statistics, University of Leeds, Leeds, UK., Richman SD; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds, UK., West NP; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds, UK., Galvin L; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Bottomley D; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds, UK., Hemmings G; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds, UK., Glover A; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Natarajan S; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Miller R; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Arif S; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK., Rossington H; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; Leeds Institute of Data Analytics, University of Leeds, Leeds, UK., Dunwell TL; GeneFirst Ltd., Abingdon, UK., Dailey SC; GeneFirst Ltd., Abingdon, UK., Fontarum G; GeneFirst Ltd., Abingdon, UK., George A; GeneFirst Ltd., Abingdon, UK., Wu W; GeneFirst Ltd., Abingdon, UK., Quirke P; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds, UK., Wood HM; Pathology and Data Analytics, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK. h.m.wood@leeds.ac.uk.; NIHR Leeds Biomedical Research Centre, Leeds, UK. h.m.wood@leeds.ac.uk.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Sep 19; Vol. 14 (1), pp. 21870. Date of Electronic Publication: 2024 Sep 19.
DOI: 10.1038/s41598-024-72419-7
Abstrakt: Microsatellite instability (MSI) occurs across a number of cancers and is associated with different clinical characteristics when compared to microsatellite stable (MSS) cancers. As MSI cancers have different characteristics, routine MSI testing is now recommended for a number of cancer types including colorectal cancer (CRC). Using gene panels for sequencing of known cancer mutations is routinely performed to guide treatment decisions. By adding a number of MSI regions to a small gene panel, the efficacy of simultaneous MSI detection in a series of CRCs was tested. Tumour DNA from formalin-fixed, paraffin-embedded (FFPE) tumours was sequenced using a 23-gene panel kit (ATOM-Seq) provided by GeneFirst. The mismatch repair (MMR) status was obtained for each patient from their routine pathology reports, and compared to MSI predictions from the sequencing data. By testing 29 microsatellite regions in 335 samples the MSI status was correctly classified in 314/319 samples (98.4% concordance), with sixteen failures. By reducing the number of regions in silico, comparable performance could be reached with as few as eight MSI marker positions. This test represents a quick, and accurate means of determining MSI status in FFPE CRC samples, as part of a routine gene mutation assay, and can easily be incorporated into a research or diagnostic setting. This could replace separate mutation and MSI tests with no loss of accuracy, thus improving testing efficiency.
(© 2024. The Author(s).)
Databáze: MEDLINE
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